Two intronic mutations in the adrenoleukodystrophy gene

Human Mutation

Volumn 6, Issue 3, 1995, Pages 272-273

  Kemp, Stephan ^a   Ligtenberg, Marjolijn J L ^b   van Geel, Björn M ^a   Barth, Peter G ^a   Sarde, Claude‐Olivier ^c   van Oost, Bernard A ^b   Bolhuis, Pieter A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; DEMYELINATION; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE INHERITANCE;

ADRENOLEUKODYSTROPHY; BASE SEQUENCE; HUMAN; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; SUPPORT, NON-U.S. GOV'T;

EID: 0029157817     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380060316     Document Type: Article

References (8)

1. Abnormal messenger RNA expression and a missense mutation in patients with X‐linked adrenoleukodystrophy
2. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy
3. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
4. Adrenoleukodystrophy (X‐linked)
5. Putative X‐linked adrenoleukodystrophy gene shares unexpected homolpgy with ABC transporters
6. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
7. Genomic organization of the adrenoleukodystrophy gene
8. Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy